[Analysis of a program for atypical familial microcytosis. Molecular basis of alpha-thalassemia].
The results of a programme for the study of atypical familial microcytosis are analysed in this paper. The techniques used were "in vitro" synthesis of globin chains in tritiated leucine-labelled reticulocytes and genetic mapping with different restriction enzymes, plus the usual hematologic values. Of the 134 syntheses performed, 73 showed alpha/beta ratio lower than 1 (alpha-thalassaemia). The lowest values, alpha/beta ratio of 0.54 +/- 0.14, corresponded to 3 patients with Hb H disease. In general terms, our findings are similar to those reported in the literature. The genetic mapping was performed in 98 patients with alpha-thalassaemia (73 cases with decreased alpha/beta ratio, 2 cases with normal ratio, and 23 relatives). Of the 98 patients, 3 had Hb H disease, 70 corresponded to heterozygous alpha 0-thalassaemia, 11 to homozygous alpha(+)-thalassaemia, and 14 to heterozygous alpha (+)-thalassaemia. The analysis of DNA revealed the heterogeneity of the molecular alterations, the prevalent haplotypes being (--MED), in 74% of the patients, and (-3.7 alpha), in 100% of the cases. The other alpha zero-thalassaemia mutations found were the deletions (--SEA) and (--SPAN) and the "no-deletion" thalassaemias.
Villegas Martínez
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A
Hospital Universitario San Carlos, Universidad Complutense, Madrid.
D002872:Chromosome Deletion; D004252:DNA Mutational Analysis; D015342:DNA Probes; D005838:Genotype; D005914:Globins / Q000235:genetics*; D006447:Hemoglobin H / Q000032:analysis; D006453:Hemoglobinopathies / Q000235:genetics; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D015183:Restriction Mapping; D012156:Reticulocytes / Q000378:metabolism; D013030:Spain / Q000453:epidemiology; D013789:Thalassemia / Q000097:blood / Q000453:epidemiology / Q000235:genetics*
D015342:DNA Probes; D006455:Hemoglobins, Abnormal; D005914:Globins; D006447:Hemoglobin H
Análisis de un programa de microcitosis familiares atípicas. Base molecular de la alpha-talasemia.